Results 131 to 140 of about 35,482 (247)

Preimplantation genetic testing for monogenic disorders: clinical experience with BRCA1 and BRCA2 from 2010-2021. [PDF]

J Assist Reprod Genet, 2023
Barrett F, Shaw J, Besser AG, Grifo JA, Blakemore JK.   +4 more
europepmc   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders. [PDF]

Prenat Diagn
Lam YH, Shi M, Dong Z, Choy KW, Leung TY, Cao Y.   +5 more
europepmc   +1 more source

The evolving role of regulatory T cells in Sjögren's disease pathogenesis and the promise of Treg‐based therapies: A comprehensive review

Rheumatology &Autoimmunity, EarlyView.
Graphical Abstract The evolving role of regulatory T cells in primary Sjögren's disease pathogenesis and the promise of Treg‐based therapies. Abstract Sjögren's disease (SjD) is a chronic systemic autoimmune disorder characterised by exocrine gland dysfunction and diverse systemic manifestations.
Gagan Urs, Bharath Raj Srinivasan, Himabindu Jayaprakash Narayan, Mirunalini Gobinath, Lekitha Manjunath, Mahabaleshwar Mamadapur   +5 more
wiley   +1 more source

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer, Kristina Lagerstedt‐Robinson, Daniel Nilsson, Cilla Söderhäll, Björn Hammar, Erik Björck   +5 more
wiley   +1 more source

Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD. [PDF]

Liver Int
Schwantes-An TH, Abreu MA, Neuschwander-Tetri BA, Wang J, Guo X, Tan J, Hegele RA, Davidson NO, Lotta L, Verweij N, Yates KP, Rotter JI, Chalasani N.   +12 more
europepmc   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA. [PDF]

Genome Med
Zhang L, Hua R, Wu Y, Han X, Wu Y, Fei H, Zhao X, Chang C, Gao L, Chen Y, Xu H, Li N, Yang J, Wang Y, Wang J, Li S.   +15 more
europepmc   +1 more source

Genomic analysis of lean individuals with NAFLD identifies monogenic disorders in a prospective cohort study. [PDF]

JHEP Rep, 2023
Zheng M, Huang DQ, Konkwo C, Agrawal S, Khera AV, Loomba R, Vilarinho S, Ajmera V.   +7 more
europepmc   +1 more source